Your prenatal testing journey

Tests and screenings can help you better understand any potential risks to your baby’s health before pregnancy, and help you monitor their development at every stage.

Types of testing

As your baby grows, so can your knowledge about the types of testing available before, during, and right after pregnancy. Here are some common screenings and tests to familiarize yourself with as you navigate your pregnancy.

Prenatal screening

A safe and simple way to screen prenatal DNA and learn about your baby’s risk for certain conditions. Although not a specific diagnosis, screening can help give you peace of mind, or guide your next steps during your pregnancy.

Ultrasound screening

An essential imaging technique used during pregnancy to monitor the development of the fetus. Ultrasounds provide real-time images that help healthcare providers assess fetal growth, detect abnormalities, and determine important details such as gestational age and position.

Diagnostic testing

These tests can sometimes be more invasive, but may be necessary to confirm whether your baby has a certain condition, giving you time to prepare as you plan for what’s ahead.

Newborn screening

A standard screening for your baby after birth. Prenatal screening doesn’t replace newborn screening. Newborn screening helps your baby’s healthcare provider determine whether your child needs additional testing based on the results.

What conditions do these tests typically screen for?

These are a few of the more commonly discussed conditions when it comes to screening and diagnostic testing:

  • Down syndrome
  • Edwards syndrome
  • Patau syndrome
  • Cystic fibrosis
  • Sickle cell anemia
  • Tay-Sachs disease
  • Fragile X syndrome
  • Neural tube defects
  • Spinal muscular atrophy (SMA)
  • Hemophilia

1st Trimester

View 2nd Trimester
|View Postpartum
Before or during pregnancy
Before or during pregnancy

Carrier screening

Experts recommend this screening for anyone trying to conceive or already pregnant. It checks the parents’ DNA for genetic conditions that could be passed to the baby. If both parents have a change in the same gene, in most cases, there’s a 25% chance that your baby will inherit the genetic change from both parents and develop symptoms. On the rare chance that your baby is at risk, knowing early helps you prepare and plan with your healthcare team. If you’re interested in carrier screening, the Foresight™ Carrier Screen offers the highest published at-risk couple detection rate for serious inherited conditions.1

Learn more about Foresight Carrier Screen Talk to your doctor about screening
Six weeks
Six weeks

Gender test

An at-home test will let you know exactly what to expect. The SneakPeek® test looks for Y chromosomes in your blood to predict the sex of your baby with more than 99% accuracy.2

Learn more about SneakPeek
Seven to 10 weeks
Seven to 10 weeks

Dating scan/ultrasound

To make sure everything is progressing smoothly, this quick and easy scan helps determine how far along you are, gives you a clearer idea of your due date, and checks things like the baby’s heartbeat, overall development, and whether you’re expecting more than one baby.

Eight weeks
Eight weeks

Cell-free DNA (cfDNA) screening

For a more detailed view of your baby’s health, a cfDNA screening is recommended to check your baby’s chromosomes for specific conditions, helping you feel more confident and informed as you continue on your path to parenthood. For reliable insights, the Prequel® Prenatal Screen is the only cfDNA screen that is available at eight weeks, and delivers results to over 99.9% of patients on the first draw, regardless of ancestry or BMI.3,4,5

Learn more about Prequel Talk to your doctor about screening

2nd Trimester

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|View Postpartum
12 weeks
12 weeks

Nuchal translucency ultrasound

For more guidance on next steps in your prenatal journey, this non-invasive scan measures the amount of fluid at the back of your baby’s neck. This measurement offers helpful insights into your baby’s development.

~10-13 WEEKS
~10-13 WEEKS

Chorionic villus sampling (CVS)

If your doctor needs more detailed information about your baby’s genetic health, they may suggest a CVS test to detect possible genetic conditions early in pregnancy. While it’s more invasive, it offers more certainty, helping you plan for the future.

~15-20 WEEKS
~15-20 WEEKS

Amniocentesis

If ultrasounds and screenings show any potential concern, or if you are considered to be of advanced maternal age, your doctor may recommend a diagnostic procedure to more closely analyze the baby’s DNA in the amniotic fluid, so they can determine if your baby has a genetic condition.

20 weeks
20 weeks

Anatomy scan/ultrasound

To dive deeper into your baby’s development, doctors use this scan to get a clearer picture of your baby’s organs and internal structures so they can check for any congenital conditions or physical abnormalities, such as heart defects or spinal issues.

3rd Trimester

~28-40 weeks
~28-40 weeks

Third-trimester testing

In the final stretch of pregnancy, your healthcare provider will continue monitoring you and your baby with several key tests. If your pregnancy is high risk, you may need additional testing.

Postpartum

View 1st Trimester
|View 2nd Trimester
~12-48 hours after birth
~12-48 hours after birth

Newborn screening

After you give birth, a healthcare provider will perform a newborn screening to see if your baby needs any diagnostic testing. Among other things, they will test your child’s hearing and heart, and screen for serious, rare conditions by taking a few drops of blood from their heel. Newborn screening may not give you time to plan ahead like prenatal screening does. However, since results typically come in five to seven days after delivery, newborn screening can lead to early diagnosis and treatment. That early intervention could have a direct effect on your baby’s long-term health.

Newborn screening panels vary from state to state and change frequently.6,7 Learn which conditions your state health department will test for below.

See the conditions your state screens for

How do I get screened?

What to ask your healthcare provider

More questions about prenatal screening?

The truth about prenatal screening

REFERENCES

  1. Hogan GJ, et al. Validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy number variant identification. Clin. Chem.2018;64(7):1063-1073. doi:10.1373/clinchem.2018.286823.
  2. https://sneakpeektest.com/wp-content/uploads/2021/01/Large-scale-follow-up-research-study-SneakPeek-Early-Gender-DNA-Test-99.9-Accurate.pdf
  3. Welker et al. High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening. Genet Med 23, 443–450 (2021).
  4. Hancock S, Ben-Shachar R, Adusei C, et al. Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate. Ultrasound Obstet Gynecol. 2020;56(3):422-430. doi:10.1002/uog.21904.
  5. Hammer C, Pierson S, Acevedo A, Goldberg J, Westover T, Chawla D, Mabey B, Muzzey D, Johansen Taber K. High positive predictive value 22q11.2 microdeletion screening by prenatal cell-free DNA testing that incorporates fetal fraction amplification. Prenat Diagn. Epub 2024. doi: 10.1002/pd.6562
  6. Newborn Screening Tests. https://www.acog.org/womens-health/faqs/newborn-screening-tests. Accessed May 27, 2025.
  7. Conditions Screened By State. https://www.babysfirsttest.org/newborn-screening/states. Accessed May 27, 2025.

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